Linked Data
ClinVar Variation Id:
21175
ClinVar RCV Id:
RCV000020297
dbSNP Id:
rs113994203
gnomAD v4:
17-2676607-G-A
COSMIC:
COSM4064813
PubMed:
PMID:20301752
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.2676607G>A , CM000679.2:g.2676607G>A | GRCh38 |
| NC_000017.10:g.2579901G>A , CM000679.1:g.2579901G>A | GRCh37 |
| NC_000017.9:g.2526651G>A | NCBI36 |
| NG_009799.1:g.87979G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397195.10:c.1002+1G>A MANE Select | ENSP00000380378.4:n.1002+1G>A | |
| ENST00000571495.2:n.2087+1G>A | ||
| ENST00000674608.1:c.1056+1G>A | ENSP00000501976.1:n.1056+1G>A | |
| ENST00000674717.1:c.807+1G>A | ENSP00000501931.1:n.807+1G>A | |
| ENST00000675084.1:n.256+1G>A | ||
| ENST00000675202.1:c.1002+1G>A | ENSP00000502843.1:n.1002+1G>A | |
| ENST00000675331.1:c.1002+1G>A | ENSP00000502031.1:n.1002+1G>A | |
| ENST00000675385.1:n.616+1G>A | ||
| ENST00000675390.1:c.1002+1G>A | ENSP00000501969.1:n.1002+1G>A | |
| ENST00000675574.1:n.4057+1G>A | ||
| ENST00000675621.1:c.1002+1G>A | ENSP00000502117.1:n.1002+1G>A | |
| ENST00000675764.1:c.*956+1G>A | ENSP00000502242.1:n.*956+1G>A | |
| ENST00000676077.1:c.*320+1G>A | ENSP00000502507.1:n.*320+1G>A | |
| ENST00000676098.1:c.1002+1G>A | ENSP00000502735.1:n.1002+1G>A | |
| ENST00000676188.1:c.1002+1G>A | ENSP00000502577.1:n.1002+1G>A | |
| ENST00000676353.1:c.807+1G>A | ENSP00000502737.1:n.807+1G>A | |
| ENST00000397193.7:n.810+1G>A | ||
| ENST00000397195.9:c.1002+1G>A | ENSP00000380378.4:n.1002+1G>A | |
| ENST00000571495.1:n.726+1G>A | ||
| ENST00000572915.6:n.676+2511G>A | ||
| ENST00000574468.1:c.396+2319G>A | ENSP00000460591.1:n.396+2319G>A | |
| ENST00000574816.5:n.323+1G>A | ||
| NM_000430.3:c.1002+1G>A | NP_000421.1:n.1002+1G>A | |
| XM_011523901.1:c.1056+1G>A | XP_011522203.1:n.1056+1G>A | |
| XM_011523902.1:c.1056+1G>A | XP_011522204.1:n.1056+1G>A | |
| XM_011523903.1:c.1056+1G>A | XP_011522205.1:n.1056+1G>A | |
| XM_011523901.2:c.1056+1G>A | XP_011522203.1:n.1056+1G>A | |
| XM_011523902.3:c.1056+1G>A | XP_011522204.1:n.1056+1G>A | |
| XM_011523903.2:c.1056+1G>A | XP_011522205.1:n.1056+1G>A | |
| XM_017024701.1:c.1002+1G>A | XP_016880190.1:n.1002+1G>A | |
| XM_017024702.2:c.807+1G>A | XP_016880191.1:n.807+1G>A | |
| NM_000430.4:c.1002+1G>A MANE Select | NP_000421.1:n.1002+1G>A |